OBO ID: DOID:0060453
Term Name: Reis-Bucklers corneal dystrophy Search Ontology:
Synonyms:
  • anterior limiting membrane dystrophy type I
  • corneal dystrophy of Bowman layer type I
  • geographic corneal dystrophy
  • granular corneal dystrophy type III
  • RBCD
Definition: An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and irregular geographic opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea. https://www.omim.org/entry/608470
References:
Ontology: Human Disease   ( DOID:0060453 )
Relationships
is a type of:
OTHER Reis-Bucklers corneal dystrophy PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TGFBI Corneal dystrophy, Reis-Bucklers type 608470
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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